Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2

•Deficiency of adenosine deaminase 2 (DADA2) is a treatable genetic cause of systemic vasculitis.•Peripheral nerve involvement may include vasculitic neuropathy.•Think of DADA2 if peripheral neuropathy appears in context of a systemic syndrome.•ADA2 activity level can be measured in plasma to guide...

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Published in:Neuromuscular disorders : NMD 2021-09, Vol.31 (9), p.891-895
Main Authors: Carneiro, Diogo Reis, Rebelo, Olinda, Matos, Anabela, Baldeiras, Inês, Almendra, Luciano, Fernandes, Carolina, Negrão, Luís, Almeida, Maria Rosário, Matias, Fernando, Brás, José, Guerreiro, Rita, Santo, Gustavo C
Format: Article
Language:English
Subjects:
Adenosine Deaminase - deficiency
Adenosine deaminase 2
Adult
Cohort Studies
DADA2
Female
Humans
Intercellular Signaling Peptides and Proteins
Male
Mutation
Myopathy
Peripheral Nervous System Diseases - etiology
Peripheral neuropathy
Phenotype
Vasculitis
Vasculitis - etiology
Young Adult
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Summary:•Deficiency of adenosine deaminase 2 (DADA2) is a treatable genetic cause of systemic vasculitis.•Peripheral nerve involvement may include vasculitic neuropathy.•Think of DADA2 if peripheral neuropathy appears in context of a systemic syndrome.•ADA2 activity level can be measured in plasma to guide genetic testing.•TNF inhibitors are an effective treatment for the vasculitic phenotype of DADA2. Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive inflammatory vasculopathy characterized by systemic vasculitis, early-onset stroke and livedo racemosa. We report a family cohort of 3 patients with ADA2 compound heterozygous mutation p.[Thr360Ala] and [Gly383Ser]. Two of them had progressive involvement of the peripheral nervous system in the fourth decade, both after stroke. In one patient, clinical and neurophysiological studies showed progression of mononeuritis multiplex to chronic axonal sensorimotor polyneuropathy, nerve biopsy had features of small vessel vasculitic neuropathy, and muscle biopsy disclosed neurogenic atrophy with reinnervation. The second patient presented with progressive sensory symptoms of the lower limbs and chronic axonal sensorimotor polyneuropathy in nerve conduction studies. These two patients had absent plasma ADA2 activity. The third patient had no neurological affection despite low, but not absent, plasma ADA2 activity. Patients were started on a tumor necrosis factor (TNF) inhibitor, which has presumed benefits for the vasculitic phenotype of DADA2.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2021.05.001